OMIA:001323-10105 : Dwarfism, GHR-related in Mus minutoides (Southern African pygmy mouse)

In other species: pig , taurine cattle

Categories: Skeleton phene (incl. short stature & teeth)

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 262500 (trait) , 604271 (trait) , 600946 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: no

Cross-species summary: similar to Laron Syndrome in humans renamed from 'Dwarfism, Laron' [28/04/2023]

Species-specific description: Matsuya et al. (2023) "investigate[d] the growth hormone receptor (Ghr) gene sequence in M. minutoides. [The authors] identified several amino acid variations, including the P469L mutation. [The] findings suggest that this mutation affects Ghr protein functionality, decreasing Igf1 expression and contributing to the dwarfism observed in [the species] M. minutoides."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001323-10105: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2023 Matsuya, S., Fujino, K., Imai, H., Kusakabe, K.T., Kano, K. :
Characteristic amino acid residues in the growth hormone receptor gene on Mus minutoides underlying dwarfism. MicroPubl Biol 2023, 2023. Pubmed reference: 37767364. DOI: 10.17912/micropub.biology.000955.

Edit History

  • Created by Imke Tammen2 on 03 Oct 2023
  • Changed by Imke Tammen2 on 03 Oct 2023